Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001267321 | SCV001445502 | pathogenic | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.6974_6975delTT (p.L2325Rfs*33) alteration, located in coding exon 11 of the SPEN gene, consists of a deletion of 2 nucleotides from position 6974 to 6975, causing a translational frameshift with a predicted alternate stop codon after 33 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration was reported de novo in a patient with global developmental delay, moderate intellectual disability, behavioral issues, hypotonia, dysmorphic features, gastrointestinal features, feeding/swallowing problems, and hearing loss (Radio, 2021). Based on the available evidence, this alteration is classified as pathogenic. |
Tartaglia Lab, |
RCV001530945 | SCV001468537 | pathogenic | not provided | 2020-12-03 | criteria provided, single submitter | research | |
OMIM | RCV001391189 | SCV001593175 | pathogenic | Radio-Tartaglia syndrome | 2021-05-10 | no assertion criteria provided | literature only |